Mitochondrial Polymorphisms Are Associated Both with Increased and Decreased Longevity

Abstract

Previous work compared frequency of longevity-associated polymorphisms (LAPS) in long-lived individuals and in controls from the general population (primarily in Europe and Japan), suggesting the polymorphisms are responsible for unusual longevity. However, individuals from the general population are not the control group for long-lived subjects because both were born in different periods. We report results of a project which collected mtDNA from living subjects in Costa Rica, and traced back their maternal genealogy. Since mtDNA does not recombine and its probability of mutation is low, we can assume that the maternal ancestors had the same mtDNA of their descendants. We compared the longevity of individuals with LAPS with the longevity of controls born in the same time period. We did not confirm previous associations for several markers, but found that the 5178A mutation in haplogroup D is associated with decreased longevity, whereas the 150T mutation is associated with increased longevity. These associations however, are not significant for all time periods under study. While our data confirm that mtDNA make up affects longevity, they also indicate that the time period in which a person was born had a much greater impact on longevity than presence or absence of a marker.

High mitochondrial mutation rates estimated from deep‐rooting costa rican pedigrees

“…Both strands of the HVR-I were sequenced. In addition, seven binary PCR-restriction fragment length polymorphisms were typed, known to be specific to maternal lineages within America, Europe, and Africa, in order to help define the haplogroups, namely 1663HaeIII, 13592HpaI, 110397AluI, 110871MnlI, 211251 Tsp509I, 113262 AluI, 214766 MseI, and the COII/tRNAlys 9-bp deletion (Castri et al, 2009). …”

Is there more to aging than mitochondrial DNA and reactive oxygen species?

“…Finally, Castri et al. have found that while mtDNA variants can be linked to both increased and decreased longevity, the time period in which a person was born has a much greater impact on longevity than the presence or absence of a particular polymorphism [13].…”

“…However, a study of an Irish population failed to link longevity to any particular mitochondrial haplotype, indicating that factors other than mtDNA polymorphism also may play a role in aging [12]. Finally, Castri et al have found that while mtDNA variants can be linked to both increased and decreased longevity, the time period in which a person was born has a much greater impact on longevity than the presence or absence of a particular polymorphism [13].…”

Ancestry Informative Markers Clarify the Regional Admixture Variation in the Costa Rican Population

“…Furthermore, understanding admixture in this population is essential for disease susceptibility mapping studies, and Costa Rica's population has been extensively studied for psychiatric diseases (Contreras et al 2010;Escamilla et al 2009;Escamilla et al 2007; Walss- Bass et al 2006;Walss-Bass et al 2009), longevity (Castri et al 2011;Castri et al 2009) and other disease studies (Leon et al 1992). …”